ClinVar Miner

List of variants in gene YARS2 studied for Myopathy, lactic acidosis, and sideroblastic anemia

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445 0.14334
NM_001040436.3(YARS2):c.870T>C (p.Val290=) rs142067801 0.00041
NM_001040436.3(YARS2):c.*24A>G rs368305831 0.00021
NM_001040436.3(YARS2):c.934G>C (p.Asp312His) rs190043383 0.00013
NM_001040436.3(YARS2):c.180G>A (p.Glu60=) rs137922867 0.00011
NM_001040436.3(YARS2):c.819A>G (p.Leu273=) rs149781186 0.00011
NM_001040436.3(YARS2):c.1104-16dup rs761612441

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